Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance

American Journal of Medical Genetics

Volumn 128 A, Issue 4, 2004, Pages 374-382

  Hing, Anne V ^a   Syed, Nadia ^a   Cunningham, Michael L ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Frontonasal dysplasia; Parietal foramina; Preaxial polydactyly; Tibial hemimelia

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ACROMELIC FRONTONASAL DYSOSTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINITY; DOMINANT INHERITANCE; DYSOSTOSIS; FAMILY HISTORY; GENE MUTATION; GENETIC MARKER; HUMAN; HYPOPLASIA; LIMB MALFORMATION; MALE; PENETRANCE; POLYDACTYLY; PRIORITY JOURNAL; RADIOGRAPHY; SCHOOL CHILD; SIBLING;

ERINACEIDAE;

EID: 3342986374     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30091     Document Type: Article

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